Mary L. Efron

Familial Hyperprolinemia, Cerebral Dysfunction and Renal Anomalies Occurring in a Family with Hereditary Nephropathy and Deafness

This report presents clinical, genetic and biochemical studies of a family with cerebral dysfunction, congenital renal anomalies and a defect in the metabolism of the amino acid L-proline. In addit...

Galactosemia Screening of Newborns in Massachusetts

Abstract A total of 374,341 newborn infants in Massachusetts were screened for galactosemia. Of the 177,882 infants tested by bacterial metabolite inhibition assay from March, 1964, to December, 19...

Cystathioninuria in patients with neuroblastoma or ganglioneuroblastoma. Its correlation to vanilmandelic acid excretion and its value in diagnosis and therapy

Cystathionine is not normally present in urine and only a few cases of congenital cystathioninuria are known. Cystathioninuria has also been found in patients with sympathetic tumors or with primary hepatic tumors. This study was undertaken in order to assess the significance of cystathioninuria in the diagnosis and follow‐up of patients with active neuroblastoma or ganglio‐neuroblastoma. It was found that 50% of these patients excrete cystathionine. The presence or severity of cystathioninuria does not correlate with the extent of metastases, nor is it combined with an elevated vanilmandelic acid excretion. By contrast, patients successfully treated for neuroblastoma, as well as patients with a variety of other tumors or diseases, do not show cystathioninuria. It is concluded that cystathioninuria is a valid test in the diagnosis of neuroblastoma or ganglioneuroblastoma, although primary liver tumors should be considered in the differential diagnosis. Furthermore, the presence of cystathioninuria in the follow‐up course of these patients indicates that the neoplastic disease is still active.

Beta Mercaptolactate-Cysteine Disulfide: Analog of Cystine in the Urine of a Mentally Retarded Patient

β-Mercaptolactate-cysteine disulfide, a hitherto undescribed analog of cystine, was isolated from the urine of a mentally retarded patient. The propertis of this substance are described, and its structure is confirmed by mass spectrometry and by partial synthesis.

Effect of elevated plasma phenylalanine levels on other amino acids in phenylketonuric and normal subjects

Many plasma amino acids are found in lower concentrations in patients with untreated phenylketonuria than in normal subjects or in other mentally retarded institutionalized control patients. The concentrations of these amino acids, both essential and nonessential, decreased significantly after infusion of phenylalanine in two phenylketonuric subjects and one normal control. The decrease in the plasma levels could not be accounted for by renal loss.

Rapid short-column chromatography of amino acids. A method for blood and urine specimens in the diagnosis and treatment of metabolic disease.

Abstract Methods are described for the rapid analysis of certain individual amino acids (e.g., homocystine) and of groups of amino acids (e.g., the branched-chain amino acids), which are relevant to particular metabolic diseases. All the methods use ion-exchange chromatography on a 20 × 0.9 cm column. These methods were developed especially for clinical application in the diagnosis and therapy of inborn errors of amino acid metabolism. All analyses are completed in less than 2.5 hr.

A rapid quantitative estimation of tyrosine and phenylalanine by ion-exchange chromatography.

Abstract An automatic method for rapid quantitation of tyrosine and phenylalanine by ion-exchange chromatography is presented. The method may be adapted for use on any automatic amino acid analyzer. Complete quantitation of tyrosine and phenylalanine can be obtained in as little as 15 min, making it ideal for use in screening programs for phenylketonuria and other inborn errors of metabolism.

Hydroxyprolinemia III. The origin of free hydroxyproline in hydroxyprolinemia. Collagen turnover. Evidence for a biosynthetic pathway in man

1. 1. A patient with hydroxyproline oxidase deficiency offered a unique opportunity to investigate the origin of plasma and urine hydroxyproline, since most of the free hydroxyproline produced in this patient is accumulated in blood and excreted unchanged in the urine. Dietary origin had been ruled out previously. 2. 2. The hydroxyproline-containing peptides in the urine were not different from normal. There was no evidence of abnormal collagen breakdown. Results indicate that the free hydroxyproline derives from a normal collagen turnover of about 2 g/day. 3. 3. Trial of a scorbutic diet unexpectedly resulted in a striking increase in excretion of free and peptide-bound hydroxyproline in the urine, and a further increase in plasma hydroxyproline concentration. This is in contrast to the decreased urinary hydroxyproline observed in scorbutic guinea pigs. Administration of ascorbic acid after the period of depletion resulted in further increase in excretion of free hydroxyproline. This suggests that ascorbic acid depletion in man increases turnover of mature collagen or of partially hydroxylated collagen precursors. 4. 4. When labeled glyoxylate was administered, a significant though small amount of urinary free hydroxyproline became labeled, indicating a slight degree of biosynthesis from glyoxylate in man, as has been described in rat livers.

Atypical variants of the 'ataxia telangiectasia' syndrome. Report of two cases, including one with apparent dominant inheritance.

In the two cases reported here, the progressive ataxia started later than the age of first walking, which is usual.

Pyridoxine-unresponsive homocystinuria.

HOMOCYSTINURIA due to cystathionine synthase deficiency was recognized as an entity in 1962.1 , 2 It is characterized by dislocation of the lenses, mental retardation, skeletal abnormalities and th...